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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-12337454-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12337454&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12337454,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006796.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Pro688Thr",
"transcript": "NM_006796.3",
"protein_id": "NP_006787.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 797,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269143.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006796.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Pro688Thr",
"transcript": "ENST00000269143.8",
"protein_id": "ENSP00000269143.2",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 797,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006796.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269143.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2269C>A",
"hgvs_p": "p.Pro757Thr",
"transcript": "ENST00000889396.1",
"protein_id": "ENSP00000559455.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 866,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889396.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2206C>A",
"hgvs_p": "p.Pro736Thr",
"transcript": "ENST00000964861.1",
"protein_id": "ENSP00000634920.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 845,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964861.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2191C>A",
"hgvs_p": "p.Pro731Thr",
"transcript": "ENST00000889412.1",
"protein_id": "ENSP00000559471.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 840,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889412.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2158C>A",
"hgvs_p": "p.Pro720Thr",
"transcript": "ENST00000964858.1",
"protein_id": "ENSP00000634917.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 829,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964858.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2131C>A",
"hgvs_p": "p.Pro711Thr",
"transcript": "ENST00000889406.1",
"protein_id": "ENSP00000559465.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 820,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889406.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2083C>A",
"hgvs_p": "p.Pro695Thr",
"transcript": "ENST00000889408.1",
"protein_id": "ENSP00000559467.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 804,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889408.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Pro688Thr",
"transcript": "ENST00000964852.1",
"protein_id": "ENSP00000634911.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 797,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964852.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2059C>A",
"hgvs_p": "p.Pro687Thr",
"transcript": "ENST00000889395.1",
"protein_id": "ENSP00000559454.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 796,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889395.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2059C>A",
"hgvs_p": "p.Pro687Thr",
"transcript": "ENST00000918897.1",
"protein_id": "ENSP00000588956.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 796,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918897.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2056C>A",
"hgvs_p": "p.Pro686Thr",
"transcript": "ENST00000889407.1",
"protein_id": "ENSP00000559466.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 795,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889407.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Pro685Thr",
"transcript": "ENST00000889398.1",
"protein_id": "ENSP00000559457.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 794,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889398.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2011C>A",
"hgvs_p": "p.Pro671Thr",
"transcript": "ENST00000889400.1",
"protein_id": "ENSP00000559459.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 780,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889400.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Pro667Thr",
"transcript": "ENST00000918900.1",
"protein_id": "ENSP00000588959.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 776,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918900.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1999C>A",
"hgvs_p": "p.Pro667Thr",
"transcript": "ENST00000964853.1",
"protein_id": "ENSP00000634912.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 776,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964853.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Pro663Thr",
"transcript": "ENST00000691179.1",
"protein_id": "ENSP00000509010.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 772,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691179.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1984C>A",
"hgvs_p": "p.Pro662Thr",
"transcript": "ENST00000889392.1",
"protein_id": "ENSP00000559451.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 771,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889392.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1981C>A",
"hgvs_p": "p.Pro661Thr",
"transcript": "ENST00000889409.1",
"protein_id": "ENSP00000559468.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 770,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889409.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1981C>A",
"hgvs_p": "p.Pro661Thr",
"transcript": "ENST00000964860.1",
"protein_id": "ENSP00000634919.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 770,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964860.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1978C>A",
"hgvs_p": "p.Pro660Thr",
"transcript": "ENST00000918901.1",
"protein_id": "ENSP00000588960.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 769,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918901.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.1951C>A",
"hgvs_p": "p.Pro651Thr",
"transcript": "ENST00000889393.1",
"protein_id": "ENSP00000559452.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 760,
"cds_start": 1951,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9076995253562927,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.919,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.561,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"pathogenic_score": 11,
"criteria": [
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"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_006796.3",
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"effects": [
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],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.2062C>A",
"hgvs_p": "p.Pro688Thr"
},
{
"score": 6,
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"criteria": [
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"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000586691.1",
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"effects": [
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],
"inheritance_mode": "Unknown",
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{
"score": 6,
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"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Spinocerebellar ataxia type 28",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Spinocerebellar ataxia type 28",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}